rs148260275, ACADM

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
114 1.000 0.080 1 75740112 splice donor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 2 2005 2010